Comparative Analysis of T-Score Discordance between a Registry-Based Korean Population and Atypical Femoral Fracture Patients of a Single Institution

Background@#The purpose of this study was to analyze the epidemiology of T-score discordance between the spine and femur in the South Korean population and compare the prevalence of T-score discordance between the Korean osteoporosis population and atypical femoral fracture (AFF) patients. @*Methods@#A total of 12,422 subjects from the Korea National Health and Nutrition Examination Survey were reviewed retrospectively. T-score discordance was defined as a difference of ≥ 1 standard deviation between the lumbar spine (LS) and femoral neck (FN) bone mineral density (BMD). The prevalence of T-score discordance (low LS [LS BMD FN BMD], and total [low LS + low FN]) was investigated in the osteoporosis and non-osteoporosis groups and stratified by sex and age. Tscore discordance of 63 patients with AFFs diagnosed at a single institution was compared with that of the Korean osteoporosis population using propensity score matching. @*Results@#T-score discordance was prevalent in the Korean osteoporosis population (44.8%), and low LS discordance (37.5%) was more frequently seen than low FN discordance (7.2%) (p < 0.001). The prevalence of total and low LS discordance was significantly higher in AFF patients than in the Korean osteoporosis population (total discordance: 69.8% and 42.5%, respectively; low LS discordance: 63.5% and 31.7%, respectively; p < 0.001). @*Conclusions@#T-score discordance was highly prevalent in the Korean osteoporosis population, and low LS discordance was more common than low FN discordance. Nevertheless, the prevalence of low LS discordance was significantly higher in AFF patients than in the Korean osteoporosis population.

A Case of Pregnancy in Essential Thrombocythaemia with Low dose Aspirin Treatment / 대한주산의학회잡지

Essential thrombocythaemia (ET) is a chronic myeloproliferative disorder characterized by markedly elevated platelet count in the peripheral blood due to an excessive proliferation of bone marrow megakaryocytes. The pregnancy outcome among patients with ET is mostly successful but adverse outcome due to thrombotic and bleeding complications is a matter of concern: miscarriage, intrauterine growth retardation, abruptio placenta, intrauterine fetal death and preterm delivery. Various treatments such as acetylsalicylic acid, hydroxyurea, anagrelide, heparin, interferon alpha and plateletpheresis have been proposed to improve the pregnancy outcome. We report a case of pregnant woman in condition of ET who succeeded in normal vaginal delivery without specific obstetric complications after low dose aspirin therapy during pregnancy.

Outbreak of Measles among School Ages in Yeongju in 2000 / 한국역학회지

BACKGROUND: The outbreak of measles from 2000 to 2001 was the biggest epidemic since measles vaccination was introduced in Korea. Outbreak of measles in Yeongju was one of the earliest milestones of the nationwide outbreak in the year 2000. The authors investigated epidemiologic characteristics of the outbreak in this area. METHODS: The authors estimated attack rate through the investigation of all the school age cases of measles reported to local health authority between March and May, 2000. Case investigation was done to trace the source of the outbreak. One hundred seventy two cases were examined with medical examination, with interview on their clinical manifestations, and with serologic examination on the anti-measles IgM and IgG antibody. RESULTS: Overall attack rate among the school children was 4.3%, with highest attack rate in middle school students (8.5%). The outbreak began in March in middle schools, which spread to elementary and high schools. IgG was positive in 160(93.0%) cases and IgM was positive in 94(54.6%) cases, among which 90 cases (95.7%) were also positive for IgG. IgM positive cases had higher prevalence of rash (91.5%) compared to those without IgM (70.5%). Diagnostic criteria based on the clinical manifestation and contact history showed the highest sensitivity (92.6%) compared to conventional diagnostic criteria in outbreak (40.4-44.7%) CONCLUSIONS: High proportion of susceptible children in the population due to primary or secondary vaccine failure played a key role in this outbreak. Clinical manifestation was milder than classical measles and adjustment of diagnostic criteria can be helpful in the management of outbreak.

A Case of Trisomy 9 Mosaicism Mimicking Smith-Lemli-Opitz Syndrome

Trisomy 9 mosaicism is a disease characterized not only by intrauterine growth retardation and mental retardation but also congenital heart defects, musculoskeletal, genitourinary and CNS anomalies, as well as craniofacial anomalies such as microcephaly, micrognathia, narrowed temples, prominent occiput, broad-based nose with bulbous tip, low set ears, deeply set eyes, short palpebral fissure and small mouth. This syndrome was first reported back in 1973 by Haslam and others, and has hardly ever been reported since. In Korea, a complete form of trisomy 9 syndrome was first reported in 1998 by Chun and others, but trisomy 9 mosaicism has not been reported yet. We recently experienced a case with a patient who was most likely suspected as diet therapy requiring Smith-Lemli-Opitz Syndrome(SLO), since the patient had unilateral ptosis, hypospadias, micrognathia, simian crease, and low set ears, which are the characteristics not yet reported as trisomy 9 mosaicism, but most similar to Smith-Lemli-Opitz syndrome. Also, the patient did not show the typical characteristics of trisomy 9 mosaicism such as broad nose or enophthalmosis. However, further evaluation was taken in order to make the correct diagnosis, and the serum cholesterol level of the patient was shown to be normal, which implied normal cholesterol metabolism, but the chromosomal studies of the patient confirmed the karyotype of 47,XY,+9/46,XY, which proved that the patient has trisomy 9 mosaicism.

The Effect of Level of Exposure to House Dust Mites on the Development of Asthma after Early Childhood Wheezing / 소아알레르기및호흡기학회지

PURPOSE: Many young children suffer from wheezing illness during infancy, and some of them experience wheezing frequently and develop bronchial asthma ultimately. It is not clear whether the level of exposure to allergens in the environment is a significant risk factor for asthma in this clinical setting. The aim of this study was to examine the effect of level of exposure to house dust mites on the development of asthma after early childhood wheezing. METHODS: Asthmatic children(n=21) and nonasthmatic children(n=19) with the past history of wheezing illness during the first three years of age were recruited. Samples of house dusts were collected from the bedclothes in their bedrooms. We measured the amount of group I allergens from Dermatophagoides spp., Der f I and Der p I in house dusts by ELISA using monoclonal antibodies. RESULTS: In asthmatic and nonasthmatic groups, the level of Der f I was higher than that of Der p I, although the difference was not statistically significant. The level of Der f I was 4.32 microgram/gm of dust(geometric mean; range of 1 SD : 0.61-30.48) in asthmatic group and 3.72 microgram/gm(0.50-27.42) in nonasthmatic group. The level of Der p I was 2.22 microgram/gm(0.33-14.96) in asthmatic group and 2.07 microgram/gm(0.31-13.77) in nonasthmatic group. The difference between the two groups was not significant for both allergens. When the total subjects were divided into atopic(n=21) and nonatopic(n=19) groups, there was significant difference in neither Der f I nor Der p I level between atopic and nonatopic groups. CONCLUSION: Although personal atopy is important in the development of asthma after early childhood wheezing, the level of exposure to allergens in the environment may not be a significant risk factor for the development of asthma in this clinical setting.

Importance of Serum IgE for the Improvement in Bronchial Hyperresponsiveness with Inhaled Corticosteroids in Asthmatic Children / 소아알레르기및호흡기학회지

PURPOSE: Airways hyperresponsiveness is a hallmark of asthma. Inhaled corticosteroids improve hyperresponsiveness, but the extent of improvement may vary considerably between patients. This study was designed to determine which patient characteristics predict these differences in response. METHODS: Children with atopic asthma(n=71) received inhaled budesonide(800microgram per day) regularly for 12 weeks, and methacholine PC20 was measured before and after the treatment. Baseline clinical characteristics of children were analyzed with regard to their response to budesonide therapy. RESULTS: The children were divided into high(n=36) and low responder(n=35) on the basis of the median value of the doubling doses(change in PC20). There were no differences observed between the two groups with respect to age, sex, eosinophil counts, and pretreatment FEV1 or methacholine PC20. Among the allergic parameters, serum total IgE was higher in the high responder group than in the low responder group, whereas Dermatophagoides-specific IgE levels or skin test wheal sizes were not different between the two groups. There was a significant correlation between total IgE level and change in PC20. CONCLUSION: Total serum IgE was found to be the most important and single predictor of change in PC20 with inhaled corticosteroids.

Colonic Transit Time in Chronic Constipated Patients

PURPOSE: In most instances, constipation is considered as idiopathic or functional. The total colonic transit time, traced by radio-opaque markers, makes possible the identification of the colon segment that has the motility alteration that causes constipation. We measured the total and segmental colonic transit time in children with chronic idiopathic constipation and compared the results with those without constipation to determine whether the classification of constipation according to colonic transit time is effective or not on management of functional constipation. METHODS: A study was performed on 15 children aged from 7 to 13, with functional chronic constipation and on 10 without constipation. In all of them the total and segmental colonic transit time were measured with radio-opaque markers. The children ingested 24 markers each on three successive days, and on the fourth day a plain abdominal radiograph was performed. RESULTS: In the nonconstipated children, the total colonic transit time(mean+/-SD) was 30.7+/-10.5 hours, in the right colon 4.7+/-3.3 hours, in the left colon 4.6+/-2.3 hours, and in the rectosigmoid 21.4+/-10.3 hours. In the constipated children, the total colonic transit time was 51.5+/-16.8 hours, in the right colon 13.1+/-6.8 hours, in the left colon 14.3+/-9.8 hours, and in the rectosigmoid 24.1+/-12.6 hours. There was a statistically significant difference(P<0.05) in the total colonic transit time and in both the right and left colon transit times between the constipation and the control group. CONCLUSION: The measurement of total and segmental colonic transit time is a simple method that allows one to distinguish constipation due to colonic dysfunction(right colon and left colon) from constipation due to distal obstruction(rectosigmoid).

The Optimum Dose of Oral Diazepam to Reduce Seizure Attack in Febrile Seizure Patients During Febrile Illness

PURPOSE: Febrile seizure is the most common type of seizure affecting 3-4% of children. The recurrence rate of febrile seizure is approximately 33%. About 16% of children with a febrile seizure during the febrile illness have a recurrent seizure attack within 24 hours. This study aimed to investigate the optimum dose of diazepam to reduce the recurrence of febrile seizures in children who have had a febrile seizure attack. METHODS: The children with febrile seizure who were admitted to the Maryknoll hospital for in vestigation and treatment were retrospectively reviewed. The study group compromised 306 children. The febrile seizure was defined as seizure attack with fever(above 38degreeC) without evidence of intracranial infection or defined cause in children aged 6 months to 5 years. The children were divided into four groups according to dose of diazepam. Group I, 72 patients, received no diazepam therapy. Group II, 78 patients, received oral diazepam in a dose of 0.1 mg/kg every eight hours during the febrile illness, Group III, 87 patients, 0.2 mg/kg, and Group IV, 69 patients, 0.3 mg/kg, respectively. RESULTS: The seizure attack rate and the duration of admission were reduced in both Group III and Group IV. However, there was no difference in the side effects of the diazepam between group III and IV. CONCLUSION: Oral diazepam in a dose of 0.2 mg/kg effectively decreases both the seizure attack rate and the duration of admission.

A Case of Pericentric Inversion of Chromosome 5(p15.1q11.2 )

Pericentric inversion of chromosome 5 is a rare chromosomal aberration, which has familial inheritance in a few cases. Many reports demonstrated that the phenotype is similar to the criduchat syndrome. There are many problems regarding the clinical significance for genetic counseling and parental diagnosis. The authors encountered a male neonate who presented clinodactyly, campylodactyly, closed fists with 4th and 5th fingers overlapping the index and 3rd fingers, simian crease, the dorsiflexed 2nd toes, and poor sucking power, but without other characteristics of Edwards syndrome or cri-du-chat syndrome. Chrornosome studies from peripheral blood showed a 46, XY,inv(5)(p15.1q11.2) karyotype. We report the first case of pericentric inversion of chromosome 5 in Korea with a review of literature.

A Case of Pericentric Inversion of Chromosome 5(p15.1q11.2 )

Pericentric inversion of chromosome 5 is a rare chromosomal aberration, which has familial inheritance in a few cases. Many reports demonstrated that the phenotype is similar to the criduchat syndrome. There are many problems regarding the clinical significance for genetic counseling and parental diagnosis. The authors encountered a male neonate who presented clinodactyly, campylodactyly, closed fists with 4th and 5th fingers overlapping the index and 3rd fingers, simian crease, the dorsiflexed 2nd toes, and poor sucking power, but without other characteristics of Edwards syndrome or cri-du-chat syndrome. Chrornosome studies from peripheral blood showed a 46, XY,inv(5)(p15.1q11.2) karyotype. We report the first case of pericentric inversion of chromosome 5 in Korea with a review of literature.

A Case of Fryns Syndrome

Fryns syndrome is a lethal syndrome of multiple congenital anomalies first described by Fryns et al in 1979. A recently developed major diagnostic criteria includes abnormal face, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, lung hypoplasia with diaphragmatic hernia, central nervous system anomalies and congenital heart disease. The pathogenesis of Fryns syndrome is not clear. Of the major immediate life-threatening abnormalities of this syndrome, lung hypoplasia associated with diaphragmatic hemia has usually proven to be fatal. We report a case of Fryns syndrome, which has the prenatal ultrasonographic findings of Dandy-Walker malformation and renal hypoplasia.

A Prospective Study on Ceftriaxone-associated Biliary Pseudolithiasis: A Dose-related Comparison

PURPOSE: Ceftriaxone, a parenteral third-generation cephalosporine, is widely used in the treatment of various bacterial infections. It possesses high calcium-binding affinity, forming complexes with calcium in bile salts to develop precipitate that mimics gallstone on ultrasonography. Biliary pseudolithiasis resolves completely with cessation of therapy, but several symptomatic patients have undergone cholesystectomy. We prospectively evaluated the incidence, risk factors and dose- related comparison with ultrasonography. METHODS: Between November 1998 and August 1999, 81 cases of inpatients on ceftriaxone treatment in Dongguk University Pohang Hospital were enrolled for this study. They were divided according to dose of ceftriaxone, high-dose and low-dose groups. Repeated sonography was performed on 1, 3, 5 and 7 days after initiation of ceftriaxone treatrnent and then weekly until pseudolithiasis were resolved. RESULTS: Thirty-eight percent of the subjects acquired pseudolithiasis. Sonographic abnormalities appeared from 1 to 10 days after ceftriaxone therapy and completely resolved from 1 to 24 days after cessation of ceftriaxone therapy. The incidence of pseudolithiasis was significantly higher in the high-dose group(P<0.001). In the high-dose group, fasting over a day was a significant risk factor of pseudolithiasis(P<0.01). Sex, age, duration of ceftriaxone therapy, laboratory findings, type of infection or chief complaint were not significant risk factors for pseudolithiasis. CONCLUSION: We suggest that abdominal ultrasonography should be considered in all children who receive high dose ceftriaxone with fasting over a day. If pseudolithiasis was developed, we can detect the most of resolution after 30 days of cessation of therapy.

A Case of Corpus Callosum Agenesis with Ileal Atresia and Duplication

Agenesis of corpus callosum occurs sporadically and may be transmitted as sex-linked, or autosomal-dominant or recessive traits. It has been associated with different syndromes. Clinical pictures vary from severe intellectual and neurologic abnormalities to asymptomatic and normaly intelligent cases. Agenesis of corpus callosum may occur alone, but it is more frequently associated with a high incidence of other anomalies. We report a male infant with agenesis of corpus callosum who was diagnosed to have ileal atresia and duplication.

A Case of Hypomelanosis of Ito with Hemimegalencephaly

Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of streaks, patches and swirling hypopigmentation over variable portions of the body surface. Multiple extracutaneous abnormalities involving the central nervous system, musculoskeletal structures and the eyes occur in over two-thirds of the cases. This report describes a patient with typical unilateral cutaneous lesions associated with extracutaneous features, including hypertrophy of the cerebral hemisphere contralateral to the cutaneous hypopigmentation. Chromosomal analysis of fibroblasts of depigmented skin obtained from the patients showed mosaicism.

A Case of Prader-Willi Syndrome with FUO Diagnosed at Infancy

Prader-Willi syndrome(PWS) was first described by Prader et al in 1956. This syndrome is characterized by diminished fetal activity, low birth weight, infantile hypotonia with feeding problem, temperature instability, early onset of childhood hyperphagia with consequent obesity, short stature, hypogonadism and mental retardation. The deletion of chromosome 15(del 15(qll-13)) was reported by Ledbetter in 1981, which was thought to be of paternal origin. Recently, such micro- deletion may be diagnosed by fluorescence in situ hybridization(FISH) that recognizes specific DNA base sequence. We experienced a Prader-Willi syndrome confirmed by FISH in an infant that had hypotonia, growth retardation, feeding difficulty and FUO since 1 month of age. We report this case with a brief review and related literature.

A Case of Primary Hypomagnesemia

Primary hypomagnesemia is a rare inherited disorder and it is considered to be due to either a defect in the intestinal transport of magnesium or a defect in renal tubular transport. It is important to measure the urinary excretion of magnesium to differentiate the causes of magnesium deficiency. We report here an one-month-old female infant of primary hypomagnesemia who presented generalized tonic-clonic seizures. She had hypomagnesemia(<1.5mg/dL) and several seizure attacks but normal magnesium creatinine ratio in random urine and normal magnesium excretion in 24-hour urine. Continuous oral magnesium supplementation was necessary to avoid the recurrence of symptoms and maintain serum rnagnesium levels.

Association between Tuberculin Responses and Serum IgE

PURPOSE: Atopy is a state of allergic response, mediated by IgE, to common environmental allergens. In recent decades, there has been an increase in prevalence of atopic disorders in children in developed countries. The factor associated with the rise of atopy incidence may be declining exposure to some infection opportunities. The aim of this study is to determine if the immune response to Mycobacterium tuberculosis can suppress atopy by investigating the association between tuberculin responses and serum IgE. METHODS: We divided the patients into two groups according to tuberculin skin test. Group A showed positive response (induration diameter > or =10mm), while Group B showed negative response (induration diameter< l0mm). A comparison was made between the two groups in terms of age, sex, serum total IgE and allergen-specific IgE. RESULTS: Twenty-one patients comprised Group A and 72 comprised Group B. The mean serum total IgE concentration and the number of patients showing positive MAST in Group B was significantly higher than that of Group A (P<0.05). CONCLUSION: In our study, there was an inverse association between delayed hypersensitivity to Mycobacterium tuberculosis and atopy.

Clinical Characteristics of Long-Standing Foreign Body in Airway

PURPOSE: Although the diagnosis of foreign bodies in the airway can be made early, retained and neglected foreign bodies are a common occurrence. The objective of this study was to characterize the clinical features of children diagnosed beyond 14 days following inhalation of a foreign body, long-standing foreign body in airway(LFB). METHODS: We reviewed the records of 180 cases of airway foreign body, noting the age, symptoms and signs, types and location of foreign body, chest radiographs, and lung perfusion scan findings, and compared these findings of children diagnosed within 14 day(short-term foreign body in airway : SFB, n=130) with those of LFB(n=50). RESULTS: Of chief complaints on admission, sputum was more frequent in LFB(24.0%) than in SFB(6.9%). The age distribution was similar, but the proportion of patients aged 3 to 6 years was higher in LFB(16.0%) compared with SFB(3.9%). Of the types of foreign body, plastic was more common in LFB. Abnormal chest radiographic findings were more frequent in LFB(94.0%) than in SFB(80.6%), while the location within the bronchial tree was similar. Hypoperfusion on lung scan was noted in all patients except one in LFB(93.8%). CONCLUSION: There was some difference in age distribution, sputum production, type of foreign body, and abnormal radiographic and perfusion scan findings between SFB and LFB. This suggests that retained foreign bodies may present atypical clinical manifestation and physicians should be alert to the possibility of airway foreign body in children with chronic respiratory symptoms or signs.

A Case of Ectopic CD7(+) Congenital Monocytic Leukemia

Congenital acute leukemia is a rare disorder with approximately 200 cases reported. It is defined as a childhood leukemia occurring at birth or before 1 month of age at a rate of 1%. Acute leukemias are generally classified according to morphology, cytochemistry and cell surface marker expression. Most leukemias conform to an ordered lineage-specific pattern of gene expression, but a small subset of leukemias appears not to follow lineage restriction. Several reports revealed a subgroup of acute myelogenous leukemia(AML) that expresses CD7, a cell surface marker expressed early during T lineage differentiation, especially in less differentiated AML subtypes. We report a rare case of CD7(+) congenital monocytic leukemia(M5a) with detailed immunophenotypic and cytochemical characterization in an 8 week-old female. She had central nervous system (CNS) involvement at diagnosis. Chromosomal analysis revealed a mosaicism with 46,XX,-6,de1(7) (q21),t(19;21)(q13.3;q22)/46,XX, that has not been reported.

A Clinical Study on the Etiology and the Characteristics of Pleural Effusion in Children

PURPOSE: Many different conditions result in pleural effusions (PEs) and making the differential diagnosis of PE is difficult. The purpose of the present study was to document the change of incidence and compare the etiologies of PEs with regards to age, the sidedness and characteristics of PE. METHODS: During the 10-year period from 1986 to 1995, thoracentesis was performed in 197 children with PEs at Seoul National University Children's Hospital. The hospital records of these children were reviewed, and radiologic findings and laboratory data of PE were analyzed. RESULTS: The distribution of the etiologies of PEs changed with the declining incidence of tuberculous PE. Infectious PE was the leading cause of PE in each age group. The most common etiology of infectious PE in children aged less than 3 years was bacterial PE, aged 3 to 6 years mycoplasma PE, and aged more than 6 years tuberculous PE. Malignant PE was the second most frequent cause of PE and the incidence of it was marked in children aged 3 to 6 years. Non-Hodgkin lymphoma was the most frequent cause of malignant PE and Burkitt lymphoma and leukemia were the next two leading causes of it. The sidedness of the PE was not helpful in differentiating various types of PEs. Measurements of the pleural fluid protein & glucose were not useful either. Bacterial PE presented the highest LDH activity. Infectious PE presented higher pleural fluid leukocyte count than any other type of PE, and bacterial PE was most prominent in this respect. The PE polymorphonuclear leukocyte % was marked in bacterial PE and the PE lymphocyte % in tuberculous PE. CONCLUSION: The distribution of the etiologies of PEs seems to have changed. Age, LDH, leukocyte count and differential cell count of PE were helpful in differentiating various types of PEs.